Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 145 - 148 of 172 in total
Combined oxidative phosphorylation deficiency 11 (614922 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 5900 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Epileptic encephalopathy, early infantile, 39 (612949 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 2600 uM | Abnormal | Children (1-13 years old) | Female | details |
Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2 (612073 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 2200-6300 uM | Abnormal | Children (1-13 years old) | Both | details |
Cerebral creatine deficiency syndrome 2 (612736 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Guanidoacetic acid (HMDB0000128) | 11.0-12.4 uM | Abnormal | Adult (>18 years old) | Female | details | |
| Lactic acid (HMDB0000190) | 1200-2600 uM | Abnormal | Children (1-13 years old) | Female | details |